BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 32864751)

  • 1. Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.
    Wasif N; Parveen A; Bashir H; Ashraf F; Ali E; Khan KR; Arif A
    J Dermatol; 2020 Nov; 47(11):e382-e383. PubMed ID: 32864751
    [No Abstract]   [Full Text] [Related]  

  • 2. Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH.
    Dagnewu KY; Ayele A; Liu L; Pramanik R; Onoufriadis A; Abebe E; McGrath JA
    Int J Dermatol; 2020 Mar; 59(3):e55-e57. PubMed ID: 31721180
    [No Abstract]   [Full Text] [Related]  

  • 3. Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.
    Yılmaz M; Çağdaş D; Grandin V; Altıntaş DU; Tezcan İ; de Saint Basile G; Sanal Ö
    Pediatr Allergy Immunol; 2014 Dec; 25(8):817-9. PubMed ID: 25283056
    [No Abstract]   [Full Text] [Related]  

  • 4. [Griscelli syndrome type 3: A new case].
    Kassem Youssef H; Ramstein C; Ginglinger E; Chouta Ngaha F; Nojavan H; Michel C
    Ann Dermatol Venereol; 2018 Dec; 145(12):785-789. PubMed ID: 30389201
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
    Grandin V; Sepulveda FE; Lambert N; Al Zahrani M; Al Idrissi E; Al-Mousa H; Almanjomi F; Al-Ghonaium A; K Habazi M; A Alghamdi H; Picard C; Bole-Feysot C; Nitschke P; Ménasché G; de Saint Basile G
    Hum Mutat; 2017 Oct; 38(10):1355-1359. PubMed ID: 28585352
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cellular and clinical report of new Griscelli syndrome type III cases.
    Westbroek W; Klar A; Cullinane AR; Ziegler SG; Hurvitz H; Ganem A; Wilson K; Dorward H; Huizing M; Tamimi H; Vainshtein I; Berkun Y; Lavie M; Gahl WA; Anikster Y
    Pigment Cell Melanoma Res; 2012 Jan; 25(1):47-56. PubMed ID: 21883982
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.
    Abd Elmaksoud MS; Gomaa NS; Azouz HG; On CNV; Ho CT; Omar TE; McGrath JA; Onoufriadis A
    Clin Exp Dermatol; 2020 Aug; 45(6):789-792. PubMed ID: 32275080
    [No Abstract]   [Full Text] [Related]  

  • 8. Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.
    Al-Idrissi E; ElGhazali G; Alzahrani M; Ménasché G; Pachlopnik Schmid J; Basile Gde S
    J Pediatr Hematol Oncol; 2010 Aug; 32(6):494-6. PubMed ID: 20661159
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    Christen M; de le Roi M; Jagannathan V; Becker K; Leeb T
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680875
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
    Khan A; Wang R; Han S; Ahmad W; Zhang X
    Genet Test Mol Biomarkers; 2018 Mar; 22(3):159-164. PubMed ID: 29431480
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Further evidence for genotype-phenotype disparity in Griscelli syndrome.
    Lee JYW; Eldeeb MS; Hsu CK; Saito R; Abouzeid SA; McGrath JA
    Br J Dermatol; 2017 Apr; 176(4):1086-1089. PubMed ID: 27416802
    [No Abstract]   [Full Text] [Related]  

  • 12. Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
    Nouriel A; Zisquit J; Helfand AM; Anikster Y; Greenberger S
    Pediatr Dermatol; 2015; 32(6):e245-8. PubMed ID: 26337734
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
    Hayat A; Khan AA; Rauf A; Khan SU; Hussain S; Ullah A; Ahmad W; Shams S; Khan B
    Clin Dysmorphol; 2020 Jan; 29(1):17-23. PubMed ID: 31469663
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
    Krunic AL; Stone KL; Simpson MA; McGrath JA
    Pediatr Dermatol; 2013; 30(5):e87-8. PubMed ID: 23534700
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
    Sher G; Naeem M
    Genet Test Mol Biomarkers; 2018 Dec; 22(12):714-718. PubMed ID: 30461311
    [No Abstract]   [Full Text] [Related]  

  • 16. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
    Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
    J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.
    Khorram E; Tabatabaiefar MA; Yaghini O; Khorrami M; Yazdani V; Fakhr F; Amini M; Kheirollahi M
    Mol Genet Genomics; 2023 Mar; 298(2):485-493. PubMed ID: 36651988
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.
    Cağdaş D; Ozgür TT; Asal GT; Tezcan I; Metin A; Lambert N; de Saint Basile G; Sanal O
    Eur J Pediatr; 2012 Oct; 171(10):1527-31. PubMed ID: 22711375
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family.
    Shah K; Basit S; Ali G; Ramzan K; Ansar M; Ahmad W
    Eur J Dermatol; 2021 Jun; 31(3):409-411. PubMed ID: 34309526
    [No Abstract]   [Full Text] [Related]  

  • 20. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
    Naeem MA; Gottsch AD; Ullah I; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():1261-71. PubMed ID: 26628857
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.